Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 639
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol PRDM1   Gene   UCSC   Ensembl
Aliases BLIMP1, PRDI-BF1
Gene name PR/SET domain 1
Alternate names PR domain zinc finger protein 1, B-lymphocyte-induced maturation protein 1, BLIMP-1, PR domain 1, PR domain containing 1, with ZNF domain, PRDI-binding factor-1, beta-interferon gene positive-regulatory domain I binding factor,
Gene location 6q21 (106046728: 106109938)     Exons: 11     NC_000006.12
Gene summary(Entrez) This gene encodes a protein that acts as a repressor of beta-interferon gene expression. The protein binds specifically to the PRDI (positive regulatory domain I element) of the beta-IFN gene promoter. Transcription of this gene increases upon virus induction. Two alternatively spliced transcript variants that encode different isoforms have been reported. [provided by RefSeq, Jul 2008]
OMIM 603423

Protein Summary

Protein general information O75626  

Name: PR domain zinc finger protein 1 (EC 2.1.1. ) (BLIMP 1) (Beta interferon gene positive regulatory domain I binding factor) (PR domain containing protein 1) (Positive regulatory domain I binding factor 1) (PRDI BF1) (PRDI binding factor 1)

Length: 825  Mass: 91,771

Sequence MLDICLEKRVGTTLAAPKCNSSTVRFQGLAEGTKGTMKMDMEDADMTLWTEAEFEEKCTYIVNDHPWDSGADGGT
SVQAEASLPRNLLFKYATNSEEVIGVMSKEYIPKGTRFGPLIGEIYTNDTVPKNANRKYFWRIYSRGELHHFIDG
FNEEKSNWMRYVNPAHSPREQNLAACQNGMNIYFYTIKPIPANQELLVWYCRDFAERLHYPYPGELTMMNLTQTQ
SSLKQPSTEKNELCPKNVPKREYSVKEILKLDSNPSKGKDLYRSNISPLTSEKDLDDFRRRGSPEMPFYPRVVYP
IRAPLPEDFLKASLAYGIERPTYITRSPIPSSTTPSPSARSSPDQSLKSSSPHSSPGNTVSPVGPGSQEHRDSYA
YLNASYGTEGLGSYPGYAPLPHLPPAFIPSYNAHYPKFLLPPYGMNCNGLSAVSSMNGINNFGLFPRLCPVYSNL
LGGGSLPHPMLNPTSLPSSLPSDGARRLLQPEHPREVLVPAPHSAFSFTGAAASMKDKACSPTSGSPTAGTAATA
EHVVQPKATSAAMAAPSSDEAMNLIKNKRNMTGYKTLPYPLKKQNGKIKYECNVCAKTFGQLSNLKVHLRVHSGE
RPFKCQTCNKGFTQLAHLQKHYLVHTGEKPHECQVCHKRFSSTSNLKTHLRLHSGEKPYQCKVCPAKFTQFVHLK
LHKRLHTRERPHKCSQCHKNYIHLCSLKVHLKGNCAAAPAPGLPLEDLTRINEEIEKFDISDNADRLEDVEDDIS
VISVVEKEILAVVRKEKEETGLKVSLQRNMGNGLLSSGCSLYESSDLPLMKLPPSNPLPLVPVKVKQETVEPMDP
Structural information
Protein Domains
SET. (84-201)
Interpro:  IPR016608 IPR001214 IPR013087
Prosite:   PS50280 PS00028 PS50157

Pfam:  
PF00856

PDB:  
3DAL
PDBsum:   3DAL
MINT:   2857156
STRING:   ENSP00000358092;
Other Databases GeneCards:  PRDM1;  Malacards:  PRDM1

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IDA molecular_function
GO:0001078 transcriptional repressor
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IDA molecular_function
GO:0001763 morphogenesis of a branch
ing structure
IEA biological_process
GO:0001893 maternal placenta develop
ment
IEA biological_process
GO:0003170 heart valve development
IEA biological_process
GO:0003281 ventricular septum develo
pment
IEA biological_process
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0007281 germ cell development
IEA biological_process
GO:0008168 methyltransferase activit
y
IEA molecular_function
GO:0009791 post-embryonic developmen
t
IEA biological_process
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0030889 negative regulation of B
cell proliferation
IEA biological_process
GO:0031665 negative regulation of li
popolysaccharide-mediated
signaling pathway
IEA biological_process
GO:0032259 methylation
IEA biological_process
GO:0035904 aorta development
IEA biological_process
GO:0042462 eye photoreceptor cell de
velopment
IEA biological_process
GO:0042826 histone deacetylase bindi
ng
IEA molecular_function
GO:0045165 cell fate commitment
IEA biological_process
GO:0045579 positive regulation of B
cell differentiation
IEA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0048844 artery morphogenesis
IEA biological_process
GO:0060576 intestinal epithelial cel
l development
IEA biological_process
GO:0060707 trophoblast giant cell di
fferentiation
IEA biological_process
GO:0060976 coronary vasculature deve
lopment
IEA biological_process
GO:1990654 sebum secreting cell prol
iferation
IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IDA molecular_function
GO:0001078 transcriptional repressor
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IDA molecular_function
GO:0001701 in utero embryonic develo
pment
IEA biological_process
GO:0001763 morphogenesis of a branch
ing structure
IEA biological_process
GO:0001892 embryonic placenta develo
pment
IEA biological_process
GO:0001893 maternal placenta develop
ment
IEA biological_process
GO:0003170 heart valve development
IEA biological_process
GO:0003279 cardiac septum developmen
t
IEA biological_process
GO:0003281 ventricular septum develo
pment
IEA biological_process
GO:0003676 nucleic acid binding
IEA molecular_function
GO:0003677 DNA binding
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
IEA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005634 nucleus
IEA cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IEA cellular_component
GO:0005737 cytoplasm
IDA cellular_component
GO:0006351 transcription, DNA-templa
ted
IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
IEA biological_process
GO:0007281 germ cell development
IEA biological_process
GO:0008168 methyltransferase activit
y
IEA molecular_function
GO:0009791 post-embryonic developmen
t
IEA biological_process
GO:0010628 positive regulation of ge
ne expression
IEA biological_process
GO:0010629 negative regulation of ge
ne expression
IEA biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0030889 negative regulation of B
cell proliferation
IEA biological_process
GO:0031665 negative regulation of li
popolysaccharide-mediated
signaling pathway
IEA biological_process
GO:0032259 methylation
IEA biological_process
GO:0035904 aorta development
IEA biological_process
GO:0042127 regulation of cell prolif
eration
IEA biological_process
GO:0042462 eye photoreceptor cell de
velopment
IEA biological_process
GO:0042826 histone deacetylase bindi
ng
IEA molecular_function
GO:0043565 sequence-specific DNA bin
ding
IEA molecular_function
GO:0045165 cell fate commitment
IEA biological_process
GO:0045579 positive regulation of B
cell differentiation
IEA biological_process
GO:0046872 metal ion binding
IEA molecular_function
GO:0046872 metal ion binding
IEA molecular_function
GO:0048844 artery morphogenesis
IEA biological_process
GO:0048869 cellular developmental pr
ocess
IEA biological_process
GO:0060576 intestinal epithelial cel
l development
IEA biological_process
GO:0060707 trophoblast giant cell di
fferentiation
IEA biological_process
GO:0060976 coronary vasculature deve
lopment
IEA biological_process
GO:1990654 sebum secreting cell prol
iferation
IEA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
IDA biological_process
GO:0000122 negative regulation of tr
anscription from RNA poly
merase II promoter
TAS biological_process
GO:0000978 RNA polymerase II core pr
omoter proximal region se
quence-specific DNA bindi
ng
IDA molecular_function
GO:0001078 transcriptional repressor
activity, RNA polymerase
II core promoter proxima
l region sequence-specifi
c binding
IDA molecular_function
GO:0003700 transcription factor acti
vity, sequence-specific D
NA binding
TAS molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005515 protein binding
IPI molecular_function
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005654 nucleoplasm
TAS cellular_component
GO:0005737 cytoplasm
IDA cellular_component

Diseases

Associated diseases References
Endometriosis PMID: 26054109
Endometriosis INFBASE26054109
Rheumatoid arthritis PMID: 19898481
Systemic lupus erythematosus PMID: 19838195

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
26054109 Endometrio
sis

98 (46 with end
ometriosis, 52
with benign tum
ors)
IL-1
TNF
IgG
IgA
Bcl-6
Blimp-1
Show abstract